A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945736



Internal ID22721217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22075699..22080694hg38UCSC Ensembl
chr16:22087020..22092015hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384996
hg194996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378604
Samples
Known GenesC16orf52
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945736
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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